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Circumscribed cutaneous aplasia of the vertex

Synonym(s) ACCV
Aplasia cutis congenita verticis
Prevalence 1-5 / 10 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Infancy
  • Q84.8
MeSH -
MedDRA -


Aplasia cutis congenita verticis (ACCV) is a rare defect often associated with anomalies of the skin, eyes, ear-nose-neck and limbs, developmental defects of the cardiovascular, gastrointestinal, genitourinary and central nervous systems, and malformation syndromes including chromosomal abnormalities (especially trisomy 13), Adams-Oliver syndrome, Bart's syndrome, Johanson-Bilzzard syndrome, and EEC syndrome (see these terms). The prevalence of ACCV is less than 1 in 5 000 births, but is difficult to assess due to the large variability in its severity. Bullous variants of ACCV exist with histological findings identical to those found in encephaloceles and meningoceles, supporting the recently proposed hypothesis that this variant of aplasia cutis may represent the form fruste of a neural tube closure defect. The cutaneous defect usually presents as a well-demarcated oval or circular defect (single or multiple) over the vertex of the skull, measuring 1 cm to approximately 10 cm in diameter. ACCV might also present as a full thickness defect of the scalp, skull, and dura. Suspected etiologies for ACCV include infection, vascular malformations, amniogenesis, teratogens, and genetic anomalies, but no unifying theory has been proposed. Vascular etiologies include maternal diabetes or hypotension, which are likely to impair blood circulation in scalp capillaries. A few cases have been attributed to amniotic adhesion on the vertex, while others were linked with potentially teratogenic drugs: antihypertensives from the class of angiotensin-converting enzyme inhibitors, synthetic antithyroid drugs carbimazole and methimazole, and valproic acid. Rare cases of familial recurrences of ACCV have been mentioned in the literature and showed an autosomal dominant or sometimes recessive pattern of inheritance. Superficial lesions may heal spontaneously with local wound care and antibiotics, as well as frequent dressing changes. Scar formation often occurs within three months. However, there is a risk of infection and bleeding in patients with large scalp and skull defects. There is no consensus on treatment, but the management strategy should depend on the size of the defect and the child's physical condition. In the case of large defects, an early operative treatment is desirable to prevent serious complications such as haemorrhages and infections. Sufficient skin coverage can be obtained by using rotation scalp flaps, and if necessary, additional skin grafts. Cosmetic repair at a later stage may be indicated.

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